title: Dopamine-beta-hydroxylase deficiency in humans.
abstract: We report a 42-year-old man with dopamine-beta-hydroxylase deficiency, an autonomic disorder characterized by lifelong severe orthostatic hypotension, ptosis, nasal stuffiness, hyperextensible joints, and retrograde ejaculation. There is isolated deficiency of norepinephrine in both central and peripheral neurons, which contain and release dopamine instead. Dopamine-beta-hydroxylase deficiency should be suspected also in infants presenting with delayed eye opening, hypoglycemia, hypothermia, or hypotension. It can be diagnosed definitively by assay of plasma norepinephrine and dopamine.
authors.affiliation: Autonomic Dysfunction Center, Vanderbilt University, Nashville, TN 37232.
authors.forename: I
authors.initials: I
authors.lastname: Biaggioni
authors.forename: D S
authors.initials: DS
authors.lastname: Goldstein
authors.forename: T
authors.initials: T
authors.lastname: Atkinson
authors.forename: D
authors.initials: D
authors.lastname: Robertson
mesh_terms: D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000503:physiopathology; D001794:Blood Pressure; D004299:Dopamine beta-Hydroxylase / Q000097:blood / Q000134:cerebrospinal fluid / Q000172:deficiency*; D004837:Epinephrine / Q000097:blood; D006801:Humans; D008297:Male; D009638:Norepinephrine / Q000097:blood
chemical_list: D004299:Dopamine beta-Hydroxylase; D009638:Norepinephrine; D004837:Epinephrine